ClinVar Miner

Variants in gene COQ8A with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP
NM_020247.5(COQ8A):c.*9G>A rs200743857
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233
NM_020247.5(COQ8A):c.1089C>T (p.Gly363=) rs139570869
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927
NM_020247.5(COQ8A):c.1188C>T (p.Asp396=) rs139133094
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.1573-20C>G rs2297416
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725
NM_020247.5(COQ8A):c.1800C>G (p.Val600=) rs74589348
NM_020247.5(COQ8A):c.1824C>T (p.Ser608=) rs141270350
NM_020247.5(COQ8A):c.1876C>T (p.Arg626Cys) rs141725964
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490
NM_020247.5(COQ8A):c.258A>C (p.Ala86=) rs137872711
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr) rs150696959
NM_020247.5(COQ8A):c.618G>A (p.Val206=) rs115855910
NM_020247.5(COQ8A):c.697G>A (p.Ala233Thr) rs376462712
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129

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